| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.64049207C>G | CA119194 | SOX18,TCEA2 | c.310G>C (p.Ala104Pro) c.-2320+6812C>G (n.-2320+6812C>G) c.-2236+6812C>G (n.-2236+6812C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.64049207C= | CA2375128611 | SOX18,TCEA2 | c.310G= (p.Ala104=) c.-2320+6812C= (n.-2320+6812C=) c.-2236+6812C= (n.-2236+6812C=) | dbSNP |